Variant report

Variant	rs72757092
Chromosome Location	chr1:226323659-226323660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226321369..226323954-chr1:226327416..226330476,3	K562	blood:
2	chr1:226323029..226325109-chr1:226350142..226352529,2	K562	blood:
3	chr1:226309387..226312243-chr1:226322101..226324468,2	K562	blood:
4	chr1:226322866..226324714-chr1:226373638..226375451,2	MCF-7	breast:
5	chr1:226309744..226312243-chr1:226321771..226324398,3	K562	blood:
6	chr1:226318378..226321338-chr1:226323384..226325455,2	MCF-7	breast:
7	chr1:226321090..226323803-chr1:226336056..226338005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10915938	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10915939	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10915940	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12123950	0.80[AFR][1000 genomes]
rs12130296	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12136759	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12145818	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1877153	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1877155	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1877156	0.87[EUR][1000 genomes]
rs1877161	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35152719	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3887559	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653715	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs67947191	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9645314	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226310400-226333800	Weak transcription	Small Intestine	intestine
2	chr1:226310800-226331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226316000-226324000	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:226317200-226331200	Weak transcription	Placenta	Placenta
5	chr1:226318600-226331600	Weak transcription	NH-A	brain
6	chr1:226319400-226324200	Enhancers	Gastric	stomach
7	chr1:226319600-226331200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:226320000-226324000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:226320000-226324400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:226320600-226323800	Enhancers	Fetal Intestine Large	intestine
11	chr1:226320800-226334000	Weak transcription	K562	blood
12	chr1:226321000-226331000	Weak transcription	HSMM	muscle
13	chr1:226321200-226331800	Weak transcription	HSMMtube	muscle
14	chr1:226321400-226331600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:226321400-226331600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:226321400-226331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:226321400-226333800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:226321400-226333800	Weak transcription	GM12878-XiMat	blood
19	chr1:226321800-226331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:226322000-226323800	Enhancers	Lung	lung
21	chr1:226322000-226324000	Enhancers	Stomach Mucosa	stomach
22	chr1:226322000-226324000	Enhancers	HepG2	liver
23	chr1:226322000-226331600	Weak transcription	Primary B cells from cord blood	blood
24	chr1:226322000-226334400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:226322200-226323800	Enhancers	Fetal Brain Male	brain
26	chr1:226322200-226331600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:226322200-226331800	Weak transcription	HMEC	breast
28	chr1:226322400-226323800	Enhancers	Ovary	ovary
29	chr1:226322400-226324000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:226322600-226323800	Enhancers	Right Ventricle	heart
31	chr1:226322600-226324000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:226322600-226324000	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr1:226322600-226324200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:226322600-226324200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:226322600-226324200	Enhancers	Colonic Mucosa	Colon
36	chr1:226322600-226324400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:226322800-226323800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:226322800-226324000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:226322800-226333000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:226323000-226323800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:226323000-226324000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:226323000-226324000	Bivalent Enhancer	Fetal Stomach	stomach
43	chr1:226323000-226324200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:226323200-226323800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:226323200-226323800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:226323200-226323800	Enhancers	Fetal Lung	lung
47	chr1:226323200-226324000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:226323200-226324000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:226323200-226324000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr1:226323200-226324000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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